Reaction: Defective CHST14 does not transfer SO4(2-) to GalNAc in dermatan or DS
- in pathway: Defective CHST14 causes EDS, musculocontractural type
Carbohydrate sulfotransferase 14 (CHST14) (Evers et al. 2001) mediates the transfer of sulfate to position 4 of N-acetylgalactosamine (GalNAc) residue of dermatan or to a further GalNAc residue of dermatan sulfate (D2,4(S)2-PG) in iduronate rich domains. As 4-O sulfation by CHST14 is essential for DS formation, defective CHST14 results in much lower levels of DS and higher levels of chondroitin sulfate (CS) being produced. DS plays an important role in human development and extracellular matrix maintenance and defective CHST14 results in Ehlers-Danlos syndrome, musculocontractural type (MIM:601776). Mutations causing this disease include V49*, R213P, R135G/L137Q, Y293, P281L and the compound heterozygotes P281L/K69* and P281L/C285S (Dundar et al. 2009, Miyake et al. 2010).
Reaction - small molecule participants:
PAPS [Golgi lumen]
Reactome.org reaction link: R-HSA-3636919
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Reaction input - small molecules:
3'-phosphonato-5'-adenylyl sulfate(4-)
Reaction output - small molecules:
Reactome.org link: R-HSA-3636919